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Zeitschriftenartikel (165)

Zeitschriftenartikel (165)

1.

MPG.PuRe

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Khayat, W.; Hackett , A.; Shaw, M.; Ilie , A.; Dudding-Byth , T.; Kalscheuer, V. M.; Christie , L.; Corbett , M. A.; Juusola , J.; Friend, K. L. et al.; Kirmse , B. M.; Gecz , J.; Field, M.; Orlowski, J.: A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Human Molecular Genetics 28 (4), S. 598 - 614 (2019)
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Hosseini, M.; Fattahi, Z.; Abedini, S. S.; Hu, H.; Ropers, H. H.; Kalscheuer, V. M.; Najmabadi, H.; Kahrizi, K.: GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A 179 (1), S. 13 - 19 (2019)
3.

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Kahrizi, K.; Hu, H.; Hosseini, M.; Kalscheuer, V. M.; Fattahi, Z.; Beheshtian, M.; Suckow, V.; Mohseni, M.; Lipkowitz, B.; Mehvari, S. et al.; Mehrjoo, Z.; Akhtarkhavari, T.; Ghaderi, Z.; Rahimi, M.; Arzhangi, S.; Jamali, P.; Falahat Chian, M.; Nikuei , P.; Sabbagh Kermani, F.; Sadeghinia, F.; Jazayeri , R.; Tonekaboni, S. H.; Khoshaeen, A.; Habibi, H.; Pourfatemi, F.; Mojahedi , F.; Khodaie‐Ardakani, M.; Najafipour, R.; Wienker, T. F.; Najmabadi , H.; Ropers, H.-H.: Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine 95 (1), S. 151 - 159 (2019)
4.

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Basilicata, M. F.; Bruel, A.-L.; Semplicio, G.; Keller Valsecchi, C. I.; Aktaş, T.; Duffourd, Y.; Rumpf, T.; Morton, J.; Bache, I.; Szymanski, W. G. et al.; Gilissen, C.; Vanakker, O.; Õunap, K.; Mittler, G.; van der Burgt, I.; El Chehadeh, S.; Cho, M. T.; Pfundt, R.; Tan, T. Y.; Kirchhoff, M.; Menten, B.; Vergult, S.; Lindstrom, K.; Reis, A.; Johnson, D. S.; Fryer, A.; McKay, V.; Study, D. D. D.; Fisher, R. B.; Thauvin-Robinet, C.; Francis, D.; Roscioli, T.; Pajusalu, S.; Radtke, K.; Ganesh, J.; Brunner, H. G.; Wilson, M.; Faivre, L.; Kalscheuer, V. M.; Thevenon, J.; Akhtar, A.: De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics 50 (10), S. 1442 - 1451 (2018)
5.

MPG.PuRe

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Charzewska, A.; Maiwald, R.; Kahrizi, K.; Oehl‐Jaschkowitz, B.; Dufke, A.; Lemke, J. R.; Enders, H.; Najmabadi, H.; Tzschach, A.; Hachmann, W. et al.; Jensen, C.; Bienek, M.; Poznański, J.; Nawara, M.; Chilarska, T.; Obersztyn, E.; Hoffman‐Zacharska, D.; Gos, M.; Bal, J.; Kalscheuer, V. M.: The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders. Clinical Genetics: an international journal of genetics in medicine 2018 (2018)
6.

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Selvan, N.; George, S.; Serajee, F. J.; Shaw, M.; Hobson, L.; Kalscheuer, V.; Nripesh, P.; Levy, S. E.; Taylor, J.; Aftimos, S. et al.; Schwartz, C. E.; Huq, A. M.; Gecz, J.; Wells, L.: O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling. Journal of Biological Chemistry 293 (27), S. 10810 - 10824 (2018)
7.

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Frints, S. G. M.; Ozanturk, A.; Rodríguez Criado, G.; Grasshoff, U.; de Hoon, B.; Field, M.; Manouvrier-Hanu, S.; Hickey, S. E.; Kammoun, M.; Gripp, K. W. et al.; Bauer, C.; Schroeder, C.; Toutain, A.; Mihalic Mosher, T.; Kelly, B. J.; White, P.; Dufke, A.; Rentmeester, E.; Moon, S.; Koboldt, D. C.; van Roozendaal, K. E. P.; Hu, H.; Haas, S. A.; Ropers, H.-H.; Murray, L.; Haan, E.; Shaw, M.; Carroll, R.; Friend, K.; Liebelt, J.; Hobson, L.; De Rademaeker, M.; Geraedts, J.; Fryns, J.-P.; Vermeesch, J.; Raynaud, M.; Riess, O.; Gribnau, J.; Katsanis, N.; Devriendt, K.; Bauer, P.; Gecz, J.; Golzio, C.; Gontan, C.; Kalscheuer, V. M.: Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry 2018 (2018)
8.

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Smol, T.; Petit, F.; Piton, A.; Keren, B.; Sanlaville, D.; Afenjar, A.; Baker, S.; Bedoukian, E. C.; Bhoj, E. J.; Bonneau, D. et al.; Boudry-Labis, E.; Bouquillon, S.; Boute-Benejean, O.; Caumes, R.; Chatron, N.; Colson, C.; Coubes, C.; Coutton, C.; Devillard, F.; Dieux-Coeslier, A.; Doco-Fenzy, M.; Ewans, L. J.; Faivre, L.; Fassi, E.; Field, M.; Fournier, C.; Francannet, C.; Genevieve, D.; Giurgea, I.; Goldenberg, A.; Green, A. K.; Guerrot, A. M.; Heron, D.; Isidor, B.; Keena, B. A.; Krock, B. L.; Kuentz, P.; Lapi, E.; Le Meur, N.; Lesca, G.; Li, D.; Marey, I.; Mignot, C.; Nava, C.; Nesbitt, A.; Nicolas, G.; Roche-Lestienne, C.; Roscioli, T.; Satre, V.; Santani, A.; Stefanova, M.; Steinwall Larsen, S.; Saugier-Veber, P.; Picker-Minh, S.; Thuillier, C.; Verloes, A.; Vieville, G.; Wenzel, M.; Willems, M.; Whalen, S.; Zarate, Y. A.; Ziegler, A.; Manouvrier-Hanu, S.; Kalscheuer, V. M.; Gerard, B.; Ghoumid, J.: MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics (2018)
9.

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Ho, B.; Greenlaw, K.; Al Tuwaijri, A.; Moussette, S.; Martinez, F.; Giorgio, E.; Brusco, A.; Ferrero, G. B.; Linhares, N. D.; Valadares, E. R. et al.; Svartman, M.; Kalscheuer, V. M.; Rodriguez Criado, G.; Laprise, C.; Greenwood, C. M. T.; Naumova, A. K.: X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells. Biology of Sex Differences 9 (1) (2018)
10.

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Piard, J.; Hu, J. H.; Campeau, P. M.; Rzonca, S.; Van Esch, H.; Vincent, E.; Han, M.; Rossignol, E.; Castaneda, J.; Chelly, J. et al.; Skinner, C.; Kalscheuer, V. M.; Wang, R.; Lemyre, E.; Kosinska, J.; Stawinski, P.; Bal, J.; Hoffman, D. A.; Schwartz, C. E.; Van Maldergem, L.; Wang, T.; Worley, P. F.: FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. Human Molecular Genetics 27 (4), S. 589 - 600 (2018)
11.

MPG.PuRe

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Palmer, E. E.; Stuhlmann, T.; Weinert, S.; Haan, E.; van Esch, H.; Holvoet, M.; Boyle, J.; Leffler, M.; Raynaud, M.; Moraine, C. et al.; van Bokhoven, H.; Kleefstra, T.; Kahrizi, K.; Najmabadi, H.; Ropers, H.-H.; Delgado, M. R.; Sirsi, D.; Golla, S.; Sommer, A.; Pietryga, M. P.; Chung, W. K.; Wynn, J.; Rohena, L.; Bernardo, E.; Hamlin, D.; Faux, B. M.; Grange, D. K.; Manwaring, L.; Tolmie, J.; Joss, S.; Study, D. D. D.; Cobben, J. M.; Duijkers, F. A. M.; Goehringer, M.; Challman, T. D.; Hennig, F.; Fischer, U.; Grimme, A.; Suckow, V.; Musante, L.; Nicholl, J.; Shaw, M.; Lodh, S. P.; Niu, Z.; Rosenfeld, A.; Stankiewicz, P.; Jentsch, T. H.; Gecz, J.; Field, M.; Kalscheuer, V. M.: De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Molecular Psychiatry 23 (2), S. 222 - 230 (2018)
12.

MPG.PuRe

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Hu, H.; Kahrizi, K.; Musante, L.; Fattahi, Z.; Herwig, R.; Hosseini, M.; Oppitz, C.; Abedini, S. S.; Suckow, V.; Farzaneh, L. et al.; Beheshtian, M.; Lipkowitz, B.; Akhtarkhavari, T.; Mehvari, S.; Otto, S.; Mohseni, M.; Arzhangi, S.; Jamali, P.; Mojahedi, F.; Taghdiri, M.; Papari, E.; Soltani Banavandi, M. J.; Akbari, S.; Tonekaboni, S. H.; Dehghani, H.; Ebrahimpou, M. R.; Bader, I.; Davarnia, B.; Cohen, M.; Khodaei, H.; Albrecht, B.; Azimi, S.; Zirn, B.; Bastami, M.; Wieczorek, D.; Bahrami, G.; Keleman, K.; Vahid, L. N.; Timmermann, B.; Pourfatemi, F.; Jankhah, A.; Chen, W.; Nikuei, P.; Kalscheuer, V. M.; Oladnabi, M.; Wienker, T. F.; Ropers, H.-H.; Najmabadi, H.: Genetics of intellectual disability in consanguineous families. Molecular Psychiatry 24 (7) (2018)
13.

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Hector, R. D.; Kalscheuer, V. M.; Hennig, F.; Leonard, H.; Downs, J.; Clarke, A.; Benke, T. A.; Armstrong, J.; Pineda, M.; Bailey, M. E. S. et al.; Cobb, S. R.: CDKL5 variants: Improving our understanding of a rare neurologic disorder. Neurology Genetics 3 (6) (2017)
14.

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Ehmke, N.; Graul-Neumann, L.; Smorag, L.; Koenig, R.; Segebrecht, L.; Magoulas, P.; Scaglia, F.; Kilic, E.; Hennig, A. F.; Adolphs, N. et al.; Saha, N.; Fauler, B.; Kalscheuer, V. M.; Hennig, F.; Altmüller, J.; Netzer, C.; Thiele, H.; Nürnberg, P.; Yigit, G.; Jäger, M.; Hecht, J.; Krüger, U.; Mielke, T.; Krawitz, P. M.; Horn, D.; Schuelke, M.; Mundlos, S.; Bacino, C. A.; Bonnen, P. E.; Wollnik, B.; Fischer-Zirnsak, B.; Kornak, U.: De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. The American Journal of Human Genetics 101 (5), S. 833 - 843 (2017)
15.

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Niturad, C. E.; Lev, D.; Kalscheuer, V. M.; Charzewska, A.; Schubert, J.; Lerman-Sagie, T.; Kroes, H. Y.; Oegema, R.; Traverso, M.; Specchio, N. et al.; Lassota, M.; Chelly, J.; Bennett-Back, O.; Carmi, N.; Koffler-Brill, T.; Iacomino, M.; Trivisano, M.; Capovilla, G.; Striano, P.; Nawara, M.; Rzonca, S.; Fischer, U.; Bienek, M.; Jensen, C.; Hu, H.; Thiele, H.; Altmüller, J.; Krause, R.; May, P.; Becker, F.; Euro, E. C.; Balling, R.; Biskup, S.; Haas, S. A.; Nürnberg, P.; van Gassen, K. L. I.; Lerche, H.; Zara, F.; Maljevic, S.; Leshinsky-Silver, E.: Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain 140 (11), S. 2879 - 2894 (2017)
16.

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Carroll, R.; Kumar, R.; Shaw, M.; Slee, J.; Kalscheuer, V.; Corbett, M. A.; Gecz, J.: Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. European journal of human genetics 25 (9), S. 1078 - 1082 (2017)
17.

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Alber, M.; Kalscheuer, V. M.; Marco, E.; Sherr, E.; Lesca, G.; Till, M.; Gradek, G.; Wiesener, A.; Korenke, C.; Mercier, S. et al.; Becker, F.; Yamamoto, T.; Scherer, S. W.; Marshall, C. R.; Walker, S.; Dutta, U. R.; Dalal, A. B.; Suckow, V.; Jamali, P.; Kahrizi, K.; Najmabadi, H.; Minassian, B. A.: ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurology Genetics 3 (3) (2017)
18.

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Skopkova, M.; Hennig, F.; Shin, B. S.; Turner, C. E.; Stanikova, D.; Brennerova, K.; Stanik, J.; Fischer, U.; Henden, L.; Müller, U. et al.; Steinberger, D.; Leshinsky-Silver, E.; Bottani, A.; Kurdiova, T.; Ukropec, J.; Nyitrayova, O.; Kolnikova, M.; Klimes, I.; Borck, G.; Bahlo, M.; Haas, S. A.; Kim, J. R.; Lotspeich-Cole, L. E.; Gasperikova, D.; Dever, T. E.; Kalscheuer, V. M.: EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Human Mutation 38 (4), S. 409 - 425 (2017)
19.

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van der Werf, I. M.; Van Dijck, A.; Reyniers, E.; Helsmoortel, C.; Kumar, A. A.; Kalscheuer, V. M.; de Brouwer, A. P.; Kleefstra, T.; van Bokhoven, H.; Mortier, G. et al.; Janssens, S.; Vandeweyer, G.; Kooy, R. F.: Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. Gene 605, S. 92 - 98 (2017)
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Zapata, J.; Moretto, E.; Hannan, S.; Murru, L.; Longatti, A.; Mazza, D.; Benedetti, L.; Fossati, M.; Heise, C.; Ponzoni, L. et al.; Valnegri, P.; Braida, D.; Sala, M.; Francolini, M.; Hildebrand, J.; Kalscheuer, V.; Fanelli, F.; Sala, C.; Bettler, B.; Bassani, S.; Smart, T. G.; Passafaro, M.: Epilepsy and intellectual disability linked protein Shrm4 interaction with GABABRs shapes inhibitory neurotransmission. Nature Communications 8 (2017)